Allele Registry

Canonical Allele Identifier: PA103364

Gene: HMBS HGNC NCBI

MaveDb:

Score 0

Score -0.608830582

ClinVar RCV:

RCV000001520

ClinVar Variation:

1455

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Gln34Lys	CA251811 NM_000190.4:c.100C>A