Canonical Allele Identifier: PA211757
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161356
ClinVar RCV Id: RCV000148763 RCV000553221 RCV002433641 RCV003477565
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Arg916Gln
CA211754
NM_001083602.3:c.2747G>A