Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645510647

Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439771

ClinVar RCV Id: RCV002282188 RCV003147493 RCV003147492 RCV002476016 RCV000985723 RCV001275681 RCV003147491

ClinVar Variation Id: 2581562

ClinVar RCV Id: RCV003331967

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000508.1:p.His123Gln	CA7770181 NM_000517.6:c.369C>G CA393994551 NM_000517.6:c.369C>A