Allele Registry

Canonical Allele Identifier: PA251792

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001508

RCV000798844

ClinVar Variation:

1443

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Arg9His	CA251791 NM_001024382.2:c.26G>A