Canonical Allele Identifier: PA251803
Gene: HMBS HGNC NCBI
ClinVar RCV:
RCV000001514
ClinVar Variation:
1449
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Arg132Gln
CA251802
NM_001024382.2:c.395G>A