ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825842395
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1498798
ClinVar RCV Id:
RCV002003978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135770.1:p.Gln273Glu
CA362452727
NM_001142298.2:c.817C>G