ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251829
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001019553.1:p.Cys230Arg
NM_001024382.2:c.688T>C