Canonical Allele Identifier: PA2825122018
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404536
ClinVar RCV Id: RCV001901694 RCV002458770
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ala1124Val
CA5138163
NM_000264.5:c.3371C>T