ClinGen Allele Registry
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Canonical Allele Identifier:
PA658677783
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448529
ClinVar RCV Id:
RCV000518391
RCV000873769
RCV001157196
RCV001579517
RCV004541623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Ser370Pro
CA3600800
NM_003900.5:c.1108T>C