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: PA2828147038

Gene: MEF2C HGNC NCBI

Linked Data

ClinVar Variation Id: 438583

ClinVar RCV Id: RCV000656084

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351285.1:p.Ser161Leu	CA3337223 NM_001364356.2:c.482C>T