Allele Registry

Canonical Allele Identifier: PA2580060224

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV001216002

ClinVar Variation:

945373

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg26Pro	CA382888155 NM_000190.4:c.77G>C