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.
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Canonical Allele Identifier: PA2827881809

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2947582

ClinVar RCV Id: RCV003804212

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341534.1:p.Ser514Arg	CA77003532 NM_001354605.2:c.1542C>G CA353560052 NM_001354605.2:c.1540A>C CA353560058 NM_001354605.2:c.1542C>A