Canonical Allele Identifier: PA2499237593
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046910
ClinVar RCV Id: RCV001351531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Leu987Val
CA374111726
NM_001083607.3:c.2959C>G