Allele Registry

Canonical Allele Identifier: PA2825333231

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV003036632

ClinVar Variation:

2132220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Trp266Cys	CA382898741 NM_001024382.2:c.798G>T CA382898743 NM_001024382.2:c.798G>C