ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125344
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15486
ClinVar RCV Id:
RCV000016745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Leu115Met
CA125343
NM_000518.5:c.343C>A