ClinGen Allele Registry
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Canonical Allele Identifier:
PA325646
Gene: SERPINA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121176.1:p.Arg247Cys
CA325638
NM_001127704.2:c.739C>T
CA353866
NM_001127704.2:c.[739C>T;187C>T]