ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125742
Gene: HBA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000549.1:p.Ala83Asp
NM_000558.5:c.248C>A