Allele Registry

Canonical Allele Identifier: PA2825333225

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000430573

ClinVar Variation:

381651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Val250Met	CA16606875 NM_001024382.2:c.748G>A