Canonical Allele Identifier: PA2825115951
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153519
ClinVar RCV Id: RCV003077656
ClinVar Variation Id: 3015048
ClinVar RCV Id: RCV003870655
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Asn110Lys
CA339849024
NM_000310.4:c.330T>G
CA339849025
NM_000310.4:c.330T>A