Canonical Allele Identifier: PA645470606
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1458
ClinVar RCV Id: RCV000001523 RCV002272005 RCV003234886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Ala55Ser
CA251818
NM_001258208.2:c.163G>T