Allele Registry

Canonical Allele Identifier: PA103243

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000413917

RCV000779045

ClinVar Variation:

372379

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Asp178Asn	CA6314087 NM_000190.4:c.532G>A