Canonical Allele Identifier: PA2825508844
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714282
ClinVar RCV Id: RCV002297241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.His50Gln
CA374115123
NM_001083606.3:c.150T>A
CA374115124
NM_001083606.3:c.150T>G