Allele Registry

Canonical Allele Identifier: PA251798

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001512

RCV001851550

RCV003764511

ClinVar Variation:

1447

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Arg156Gln	CA251797 NM_001024382.2:c.467G>A