Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA915971370

Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 528497

ClinVar RCV Id: RCV000633718 RCV002388019 RCV003222069

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001087241.1:p.Phe469Leu	CA356906323 NM_001093772.2:c.1405T>C CA356906328 NM_001093772.2:c.1407T>A CA356906329 NM_001093772.2:c.1407T>G