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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
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Canonical Allele Identifier:
CA2767378070
Gene: MEF2C-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.89058845del , CM000667.2:g.89058845del
GRCh38
NC_000005.9:g.88354662del , CM000667.1:g.88354662del
GRCh37
NC_000005.8:g.88390418del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948549.1:n.269-36114del
NR_136217.1:n.311-36114del
NR_136218.1:n.401-36114del
NR_136219.1:n.294-36114del
NR_136220.1:n.327-36114del
NR_136221.1:n.220-36114del
NR_136222.1:n.311-36114del
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