Allele Registry

Canonical Allele Identifier: PA251831

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001536

ClinVar Variation:

1471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Glu233Lys	CA251830 NM_001024382.2:c.697G>A