Allele Registry

Canonical Allele Identifier: PA645425580

Gene: PHKB HGNC NCBI

ClinVar RCV:

RCV000429403

RCV000675933

RCV001086758

ClinVar Variation:

319360

HGVS (amino-acid)	Matching Registered Transcripts
NP_000284.1:p.Arg1041Trp	CA8041433 NM_000293.3:c.3121C>T