Allele Registry

Canonical Allele Identifier: PA916044394

Gene: PHKB HGNC NCBI

ClinVar RCV:

RCV000179286

RCV000513729

RCV001117558

ClinVar Variation:

198067

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350766.1:p.Met185Ile	CA203211 NM_001363837.1:c.555G>T CA396100134 NM_001363837.1:c.555G>A CA396100136 NM_001363837.1:c.555G>C