Canonical Allele Identifier: PA251821
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1462
ClinVar RCV Id: RCV000001527 RCV000432186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Arg184Trp
CA251820
NM_001024382.2:c.550C>T