ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654548
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444041
ClinVar RCV Id:
RCV000512627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Ile100Asn
CA390850366
NM_001127701.2:c.299T>A