Canonical Allele Identifier: PA2828034526
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428835
ClinVar RCV Id: RCV000492738

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Val1085_Ala1089del
CA645369447
NM_001354918.1:c.3254_3268del