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: PA2827881657

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 14273

ClinVar RCV Id: RCV000015343

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341534.1:p.Ser356Pro	CA123830 NM_001354605.2:c.1066T>C