ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825656483
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3058300
ClinVar RCV Id:
RCV003976910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121175.1:p.Pro279Thr
CA7327396
NM_001127703.2:c.835C>A