Allele Registry

Canonical Allele Identifier: PA2580059158

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.135892807

Score 0.189550026

Score 0.061140685

ClinVar RCV:

RCV002017727

ClinVar Variation:

1509204

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg167Pro	CA382894056 NM_000190.4:c.500G>C