ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125958
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15853
ClinVar RCV Id:
RCV000017198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000549.1:p.Ala131Asp
CA125957
NM_000558.5:c.392C>A