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: PA2827882179

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2937538

ClinVar RCV Id: RCV003794168

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341535.1:p.Met510Ile	CA353560072 NM_001354606.2:c.1530G>T CA353560073 NM_001354606.2:c.1530G>C CA353560074 NM_001354606.2:c.1530G>A