Canonical Allele Identifier: PA2825119816
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 950405
ClinVar RCV Id: RCV001222106
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asp390His
CA374119306
NM_000264.5:c.1168G>C