Canonical Allele Identifier: PA2825497084
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220503
ClinVar RCV Id: RCV000204267 RCV001020029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Arg1112His
CA348509
NM_001083603.3:c.3335G>A