ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265068
Gene: SQSTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Ala303Val
CA3600721
NM_003900.5:c.908C>T