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: PA2825487264

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888353

ClinVar RCV Id: RCV003610784

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077071.1:p.Asn1046Lys	CA374111873 NM_001083602.3:c.3138C>A CA374111874 NM_001083602.3:c.3138C>G