Allele Registry

Canonical Allele Identifier: PA645425566

Gene: PHKB HGNC NCBI

ClinVar RCV:

RCV000675928

RCV000764072

RCV003401228

RCV003920034

ClinVar Variation:

281127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000284.1:p.Gln657Lys	CA8041017 NM_000293.3:c.1969C>A