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: PA2825509224

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216366

ClinVar RCV Id: RCV000198141 RCV003165466

ClinVar Variation Id: 2028643

ClinVar RCV Id: RCV002863572

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077075.1:p.Phe225Leu	CA337678 NM_001083606.3:c.675C>G CA374119404 NM_001083606.3:c.675C>A CA374119409 NM_001083606.3:c.673T>C