ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825245610
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444044
ClinVar RCV Id:
RCV000512625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002236.1:p.Gly216Cys
CA7327456
NM_001002236.3:c.646G>T