Canonical Allele Identifier: PA2825487948
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486211
ClinVar RCV Id: RCV000575113

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Lys139Gln
CA374115101
NM_001083602.3:c.415A>C