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: PA2573269428

Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362034

ClinVar RCV Id: RCV001899972

ClinVar Variation Id: 2413796

ClinVar RCV Id: RCV003104592

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057264.4:p.Phe43Leu	CA3225874 NM_016180.5:c.127T>C CA116903786 NM_016180.5:c.129C>A CA359397756 NM_016180.5:c.129C>G