ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825245893
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289135
ClinVar RCV Id:
RCV000336993
RCV000443069
RCV003409418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002236.1:p.Pro393Ser
CA7327256
NM_001002236.3:c.1177C>T