Canonical Allele Identifier: PA2825486522
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1750238
ClinVar RCV Id: RCV002353505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Gln130Arg
CA374115164
NM_001083602.3:c.389A>G