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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:
PA2828169966
Gene: MEF2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8951
ClinVar RCV Id:
RCV000009507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352131.1:p.Gly287Asp
CA120019
NM_001365202.3:c.860G>A