Allele Registry

Canonical Allele Identifier: PA2826454894

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001519

ClinVar Variation:

1454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Ala14Thr	CA251809 NM_001258209.2:c.40G>A