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: PA2827882462

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1975262

ClinVar RCV Id: RCV002755585

ClinVar Variation Id: 2580780

ClinVar RCV Id: RCV003329975 RCV003777382

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341536.1:p.Asn407Lys	CA353559531 NM_001354607.2:c.1221C>A CA353559532 NM_001354607.2:c.1221C>G