Canonical Allele Identifier: PA2825497243
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678089
ClinVar RCV Id: RCV003463391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Ile1147Asn
CA374111659
NM_001083603.3:c.3440T>A