Canonical Allele Identifier: PA2828034494
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231012
ClinVar RCV Id: RCV004523126
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Val1079Leu
CA374111764
NM_001354918.1:c.3235G>T
CA374111765
NM_001354918.1:c.3235G>C