ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804964
Gene: PHKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000284.1:p.Ile192Val
CA8040532
NM_000293.3:c.574A>G