ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499238577
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1147149
ClinVar RCV Id:
RCV001486563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121179.1:p.Leu300Pro
CA7327382
NM_001127707.2:c.899T>C