ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669054
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
993225
ClinVar RCV Id:
RCV001284629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Pro52Thr
CA379274432
NM_000518.5:c.154C>A