Allele Registry

Canonical Allele Identifier: PA251817

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.701219934

Score 0.701996481

Score 0.701624883

ClinVar RCV:

RCV000001522

ClinVar Variation:

1457

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg167Leu	CA251815 NM_000190.4:c.500G>T