Canonical Allele Identifier: PA2825490462
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428835
ClinVar RCV Id: RCV000492738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Val1071_Ala1075del
CA645369447
NM_001083602.3:c.3212_3226del