ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669293
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001289992
ClinVar Variation:
995800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Pro125Thr
CA379273701
NM_000518.5:c.373C>A