Canonical Allele Identifier: PA2826742511
Gene: PHPT1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274272.1:p.Val3Ala
CA5347390
NM_001287343.2:c.8T>C