ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125250
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016650
RCV000641630
ClinVar Variation:
15397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Asp100Tyr
CA125249
NM_000518.5:c.298G>T