Canonical Allele Identifier: PA2825119758
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 958443
ClinVar RCV Id: RCV001231612 RCV002436903
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Lys370Arg
CA5138758
NM_000264.5:c.1109A>G