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: PA2826151232

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_001171896.1:p.Thr58Met	CA2490294 NM_001184967.2:c.173C>T