Canonical Allele Identifier: PA2826455054
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2124557
ClinVar RCV Id: RCV003039671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Ser205Arg
CA382898281
NM_001258209.2:c.613A>C
CA382898288
NM_001258209.2:c.615T>A
CA382898290
NM_001258209.2:c.615T>G