Canonical Allele Identifier: PA272950
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161355
ClinVar RCV Id: RCV000148762 RCV000570061 RCV003462056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ala1141Val
CA272946
NM_000264.5:c.3422C>T