ClinGen Allele Registry
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Canonical Allele Identifier:
PA325641
Gene: SERPINA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001002236.1:p.Arg247Cys
NM_001002236.3:c.739C>T
NM_001002236.3:c.739C>T