Canonical Allele Identifier: PA2828033417
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453823
ClinVar RCV Id: RCV000544815 RCV002448594 RCV002481742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Met751Thr
CA374114313
NM_001354918.1:c.2252T>C