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: PA2827334916

Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506027

ClinVar RCV Id: RCV002035894

ClinVar Variation Id: 2139558

ClinVar RCV Id: RCV003052657

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317528.1:p.Met1229Leu	CA4851452 NM_001330599.2:c.3685A>C CA4851453 NM_001330599.2:c.3685A>T