Allele Registry

Canonical Allele Identifier: PA2573164357

Gene: HMBS HGNC NCBI

MaveDb:

Score 0

Score -0.294376545

Score -0.174479107

ClinVar RCV:

RCV002254508

ClinVar Variation:

1691435

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Ala252Pro	CA382897968 NM_000190.4:c.754G>C