ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125694
Gene: HBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
30748
ClinVar RCV:
RCV000017003
ClinVar Variation:
15709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000549.1:p.Glu24Lys
CA125693
NM_000558.5:c.70G>A