ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825108675
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1147149
ClinVar RCV Id:
RCV001486563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000286.3:p.Leu300Pro
CA7327382
NM_000295.5:c.899T>C