Canonical Allele Identifier: PA2825507868
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231012
ClinVar RCV Id: RCV004523126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Val980Leu
CA374111764
NM_001083605.3:c.2938G>T
CA374111765
NM_001083605.3:c.2938G>C