ClinGen Allele Registry
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Canonical Allele Identifier:
PA125117
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
30359
ClinVar RCV:
RCV000016560
RCV001811162
RCV003234909
ClinVar Variation:
15320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Gly84Asp
CA125116
NM_000518.5:c.251G>A