Canonical Allele Identifier: PA2580231322
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1760600
ClinVar RCV Id: RCV002409819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Gln417Leu
CA374118901
NM_001354918.1:c.1250A>T