Canonical Allele Identifier: PA2825509201
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788287
ClinVar RCV Id: RCV002428375 RCV003098744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Met212Thr
CA374119501
NM_001083606.3:c.635T>C