Allele Registry

Canonical Allele Identifier: PA103569

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.487407093

Score 0.27336687

Score 0.102273823

ClinVar RCV:

RCV000001539

ClinVar Variation:

1474

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.His256Asn	CA251836 NM_000190.4:c.766C>A