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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:
CA815210869
Gene: MEF2C-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1488085521
gnomAD v3:
5-89058984-CA-C
gnomAD v4:
5-89058984-CA-C
MyVariant Identifiers:
chr5:g.88354802del (hg19)
chr5:g.89058985del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.89058986del , CM000667.2:g.89058986del
GRCh38
NC_000005.9:g.88354803del , CM000667.1:g.88354803del
GRCh37
NC_000005.8:g.88390559del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948549.1:n.269-35973del
NR_136217.1:n.311-35973del
NR_136218.1:n.401-35973del
NR_136219.1:n.294-35973del
NR_136220.1:n.327-35973del
NR_136221.1:n.220-35973del
NR_136222.1:n.311-35973del
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