Canonical Allele Identifier: PA2828103403
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 206649
ClinVar RCV Id: RCV000641282
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Arg196Cys
CA316946
NM_001363695.2:c.586C>T