Canonical Allele Identifier: PA2825510829
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1719708
ClinVar RCV Id: RCV002296804
ClinVar Variation Id: 2154676
ClinVar RCV Id: RCV003081904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Val965Leu
CA374111856
NM_001083606.3:c.2893G>T
CA374111857
NM_001083606.3:c.2893G>C