Canonical Allele Identifier: PA2825487294
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151484
ClinVar RCV Id: RCV003061362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Arg1084Lys
CA374111649
NM_001083602.3:c.3251G>A