ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816214
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585253
ClinVar RCV Id:
RCV003337869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Ala141Ile
CA2582341861
NM_000518.5:c.421_422delinsAT