ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825655706
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
594462
ClinVar RCV Id:
RCV000729755
RCV001083682
RCV002369991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121172.1:p.Leu300Arg
CA7327381
NM_001127700.2:c.899T>G