Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825500385

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460758

ClinVar RCV Id: RCV001965523

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077073.1:p.Phe213Leu	CA374119489 NM_001083604.3:c.639C>G CA374119490 NM_001083604.3:c.639C>A CA374119495 NM_001083604.3:c.637T>C