Allele Registry

Canonical Allele Identifier: PA103105

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.001645058

Score 0.005231198

Score 0.003824012

ClinVar Allele:

16488

ClinVar RCV:

RCV000001514

ClinVar Variation:

1449

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg149Gln	CA251802 NM_000190.4:c.446G>A