ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825657372
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189018
ClinVar RCV Id:
RCV000169405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121178.1:p.Gly249Arg
CA274265
NM_001127706.2:c.745G>C