Allele Registry

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.

Canonical Allele Identifier: PA2826090623

Gene: MEF2A HGNC NCBI

Linked Data

ClinVar Variation Id: 8949

ClinVar RCV Id: RCV000009505

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165365.1:p.Pro277Leu	CA120015 NM_001171894.5:c.830C>T