ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825244825
Gene: SERPINA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001027417
ClinVar Variation:
827596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002235.1:p.His117Tyr
CA390850226
NM_001002235.3:c.349C>T