ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825842457
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_001135770.1:p.Pro300Leu
CA362453091
NM_001142298.2:c.899C>T