ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825842726
Gene: SQSTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
455004
ClinVar RCV:
RCV000544306
ClinVar Variation:
475404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135771.1:p.Val171Leu
CA3600669
NM_001142299.2:c.511G>C