Canonical Allele Identifier: PA2825513404
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161356
ClinVar RCV Id: RCV000148763 RCV000553221 RCV002433641 RCV003477565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Arg831Gln
CA211754
NM_001083607.3:c.2492G>A