ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580136050
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490100
ClinVar RCV Id:
RCV003220183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121179.1:p.Ile380Thr
CA390847709
NM_001127707.2:c.1139T>C