Canonical Allele Identifier: PA2828034523
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966913
ClinVar RCV Id: RCV001241702 RCV001586083
ClinVar Variation Id: 1012621
ClinVar RCV Id: RCV001310664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Gly1084Arg
CA374111738
NM_001354918.1:c.3250G>C
CA374111739
NM_001354918.1:c.3250G>A