Canonical Allele Identifier: PA891845218
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570133
ClinVar RCV Id: RCV000690928 RCV001019996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asp1110His
CA374111895
NM_000264.5:c.3328G>C