Canonical Allele Identifier: PA2826742501
Gene: PHPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 711030
ClinVar RCV Id: RCV000882719

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274271.1:p.Val3Ala
CA5347390
NM_001287342.2:c.8T>C