Canonical Allele Identifier: PA2828031682
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1026821
ClinVar RCV Id: RCV001327322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ile210Phe
CA374115066
NM_001354918.1:c.628A>T