ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825245894
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2577260
ClinVar RCV Id:
RCV003324337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002236.1:p.Pro393His
CA7327255
NM_001002236.3:c.1178C>A