Canonical Allele Identifier: PA2580231312
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2142522
ClinVar RCV Id: RCV003051021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Glu374Gln
CA374119424
NM_001354918.1:c.1120G>C