ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825842334
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1061099
ClinVar RCV Id:
RCV001370619
RCV001664855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135770.1:p.Gly250del
CA3600777
NM_001142298.2:c.749_751del