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: PA2825488278

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060129

ClinVar RCV Id: RCV001369511 RCV003355442

ClinVar Variation Id: 3230931

ClinVar RCV Id: RCV004523045

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077071.1:p.Met306Ile	CA374119432 NM_001083602.3:c.918G>T CA374119433 NM_001083602.3:c.918G>C CA374119434 NM_001083602.3:c.918G>A