Allele Registry

Canonical Allele Identifier: PA1139690375

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV001216002

ClinVar Variation:

945373

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Arg9Pro	CA382888155 NM_001258209.2:c.26G>C