ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825842816
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979648
ClinVar RCV Id:
RCV002780055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135771.1:p.Asp245Asn
CA362452362
NM_001142299.2:c.733G>A