ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741903425
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2577014
ClinVar RCV Id:
RCV003323343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Pro387Ala
CA3600812
NM_003900.5:c.1159C>G