Canonical Allele Identifier: PA2580057314
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2068854
ClinVar RCV Id: RCV002975150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Ile231Thr
CA382897454
NM_000190.4:c.692T>C