ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825245459
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17987
ClinVar RCV Id:
RCV000201851
RCV000019602
RCV000019601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002236.1:p.Ile116Asn
CA127736
NM_001002236.3:c.347T>A