ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: HMBS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.[Ser69_Ser75del;Phe77_Leu100del]
CA2695215725
NM_000190.4:c.206_207del