Allele Registry

Canonical Allele Identifier: PA2826454913

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001523

RCV002272005

RCV003234886

ClinVar Variation:

1458

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Ala38Ser	CA251818 NM_001258209.2:c.112G>T