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: PA2828170107

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_001352133.1:p.Gly283Asp	CA120019 NM_001365204.3:c.848G>A