Canonical Allele Identifier: PA2828034532
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2763896
ClinVar RCV Id: RCV003503317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Leu1086Pro
CA374111724
NM_001354918.1:c.3257T>C