Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825503887

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547923

ClinVar RCV Id: RCV000660493

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077073.1:p.Phe953Leu	CA374111923 NM_001083604.3:c.2859T>G CA374111924 NM_001083604.3:c.2859T>A CA374111930 NM_001083604.3:c.2857T>C