Canonical Allele Identifier: PA2828034395
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547923
ClinVar RCV Id: RCV000660493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Phe1052Leu
CA374111923
NM_001354918.1:c.3156T>G
CA374111924
NM_001354918.1:c.3156T>A
CA374111930
NM_001354918.1:c.3154T>C