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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA815210749
Gene: MEF2C-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1391321919
MyVariant Identifiers:
chr5:g.88354592_88354593del (hg19)
chr5:g.89058775_89058776del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.89058775_89058776del , CM000667.2:g.89058775_89058776del
GRCh38
NC_000005.9:g.88354592_88354593del , CM000667.1:g.88354592_88354593del
GRCh37
NC_000005.8:g.88390348_88390349del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948549.1:n.269-36184_269-36183del
NR_136217.1:n.311-36184_311-36183del
NR_136218.1:n.401-36184_401-36183del
NR_136219.1:n.294-36184_294-36183del
NR_136220.1:n.327-36184_327-36183del
NR_136221.1:n.220-36184_220-36183del
NR_136222.1:n.311-36184_311-36183del
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