ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915968320
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444044
ClinVar RCV Id:
RCV000512625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121179.1:p.Gly216Cys
CA7327456
NM_001127707.2:c.646G>T