Canonical Allele Identifier: PA2825803140
Gene: PHPT1 HGNC NCBI
ClinVar RCV:
RCV000882719
ClinVar Variation:
711030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129333.1:p.Val3Ala
CA5347390
NM_001135861.3:c.8T>C