Canonical Allele Identifier: PA2828033703
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221968
ClinVar RCV Id: RCV000207421 RCV000791706 RCV002433914 RCV003477709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Ile847Val
CA072669
NM_001354918.1:c.2539A>G