Canonical Allele Identifier: PA2825490503
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1925122
ClinVar RCV Id: RCV002618011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Val1083Asp
CA374111652
NM_001083602.3:c.3248T>A