Canonical Allele Identifier: PA2741832407
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2897407
ClinVar RCV Id: RCV003610921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Arg999Gly
CA5138153
NM_001083607.3:c.2995A>G