Allele Registry

Canonical Allele Identifier: PA103673

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.457837212

Score 0.519331289

Score 0.543708028

ClinVar RCV:

RCV003764513

ClinVar Variation:

1485

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Leu81Pro	CA251843 NM_000190.4:c.242T>C