ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825842424
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448529
ClinVar RCV Id:
RCV000518391
RCV000873769
RCV001157196
RCV001579517
RCV004541623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135770.1:p.Ser286Pro
CA3600800
NM_001142298.2:c.856T>C