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: PA2827882200

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 228855

ClinVar RCV Id: RCV000215399 RCV003390961

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341536.1:p.Thr93Met	CA2490294 NM_001354607.2:c.278C>T