Allele Registry

Canonical Allele Identifier: PA103028

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001538

ClinVar Variation:

1473

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Ala252Val	CA251834 NM_000190.4:c.755C>T