Canonical Allele Identifier: PA2825510830
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453848
ClinVar RCV Id: RCV000558601 RCV002323898 RCV003459158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Val965Met
CA5138165
NM_001083606.3:c.2893G>A