ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127739
Gene: SERPINA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000286.3:p.Ser77Phe
NM_000295.5:c.230C>T