Allele Registry

Canonical Allele Identifier: PA103303

Gene: HMBS HGNC NCBI

MaveDb:

Score 0

Score 0.067977338

Score -0.126983089

ClinVar RCV:

RCV000001534

RCV002298429

ClinVar Variation:

1469

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Cys247Arg	CA251828 NM_000190.4:c.739T>C