ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573229788
Gene: SQSTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Glu389Gln
CA362453134
NM_003900.5:c.1165G>C