Canonical Allele Identifier: PA916011741
Gene: PHPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 711030
ClinVar RCV Id: RCV000882719
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_054891.2:p.Val3Ala
CA5347390
NM_014172.6:c.8T>C