Allele Registry

Canonical Allele Identifier: PA2826454996

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV002017727

ClinVar Variation:

1509204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Arg150Pro	CA382894056 NM_001258209.2:c.449G>C