Canonical Allele Identifier: PA2825492229
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_001077072.1:p.His200Gln
CA374115123
NM_001083603.3:c.600T>A
CA374115124
NM_001083603.3:c.600T>G