ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070944163
Gene: SQSTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Pro392Arg
CA362453608
NM_003900.5:c.1175C>G