Canonical Allele Identifier: PA645470647
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 161251
ClinVar RCV Id: RCV000148509 RCV001041963
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Arg195Cys
CA272877
NM_001258208.2:c.583C>T