Allele Registry

Canonical Allele Identifier: PA2580054575

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.584160905

Score 0.514637044

Score 0.500230152

ClinVar RCV:

RCV003036632

ClinVar Variation:

2132220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Trp283Cys	CA382898741 NM_000190.4:c.849G>T CA382898743 NM_000190.4:c.849G>C