Canonical Allele Identifier: PA2825500402
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 958443
ClinVar RCV Id: RCV001231612 RCV002436903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Lys219Arg
CA5138758
NM_001083604.3:c.656A>G