ClinGen Allele Registry
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Canonical Allele Identifier:
PA124992
Gene: HBB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Asp74Asn
CA036698
NM_000518.5:c.[220G>A;20A>T]
CA124991
NM_000518.5:c.220G>A