ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826742511
Gene: PHPT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000882719
ClinVar Variation:
711030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274272.1:p.Val3Ala
CA5347390
NM_001287343.2:c.8T>C