Allele Registry

Canonical Allele Identifier: PA103626

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.090071678

Score 0.031227114

Score 0.007549717

ClinVar RCV:

RCV000001515

ClinVar Variation:

1450

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Leu245Arg	CA251804 NM_000190.4:c.734T>G