Allele Registry

Canonical Allele Identifier: PA2825333142

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000413917

RCV000779045

ClinVar Variation:

372379

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Asp161Asn	CA6314087 NM_001024382.2:c.481G>A