ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825842894
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202211
ClinVar RCV Id:
RCV000184065
RCV000481808
RCV001323701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135771.1:p.Pro303Leu
CA203868
NM_001142299.2:c.908C>T