Allele Registry

Canonical Allele Identifier: PA103423

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001536

ClinVar Variation:

1471

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Glu250Lys	CA251830 NM_000190.4:c.748G>A