Allele Registry

Canonical Allele Identifier: PA2580060229

Gene: HMBS HGNC NCBI

MaveDb:

Score -0.285774494

Score 0

ClinVar RCV:

RCV000824246

ClinVar Variation:

665873

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg26Leu	CA382888156 NM_000190.4:c.77G>T