Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2826151577

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2947582

ClinVar RCV Id: RCV003804212

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171896.1:p.Ser457Arg	CA77003532 NM_001184967.2:c.1371C>G CA353560052 NM_001184967.2:c.1369A>C CA353560058 NM_001184967.2:c.1371C>A