ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580298339
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2048191
ClinVar RCV Id:
RCV002918613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Pro384Leu
CA362453091
NM_003900.5:c.1151C>T