ClinGen Allele Registry
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Canonical Allele Identifier:
PA913200588
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000768546
ClinVar Variation:
626307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Glu378Lys
CA390847731
NM_001127701.2:c.1132G>A