ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645467166
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287209
ClinVar RCV Id:
RCV000298533
RCV002059215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Arg247His
CA7327416
NM_001127701.2:c.740G>A