Canonical Allele Identifier: PA2825490433
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231012
ClinVar RCV Id: RCV004523126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Val1065Leu
CA374111764
NM_001083602.3:c.3193G>T
CA374111765
NM_001083602.3:c.3193G>C