Canonical Allele Identifier: PA2828031644
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453904
ClinVar RCV Id: RCV000534590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Trp197Arg
CA374115159
NM_001354918.1:c.589T>C
CA374115160
NM_001354918.1:c.589T>A