Canonical Allele Identifier: PA2825497248
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231014
ClinVar RCV Id: RCV004523128

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Ile1147Leu
CA374111661
NM_001083603.3:c.3439A>C