Canonical Allele Identifier: PA2580054528
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2832305
ClinVar RCV Id: RCV003689432

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val90Ala
CA382890378
NM_000190.4:c.269T>C