ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239438
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1057481
ClinVar RCV Id:
RCV001366472
RCV002290695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135771.1:p.Lys19Arg
CA3600462
NM_001142299.2:c.56A>G