ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108193
Gene: PHKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000284.1:p.Ala118Pro
NM_000293.3:c.352G>C