Canonical Allele Identifier: PA112476
Gene: SQSTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8108
ClinVar RCV Id: RCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV001084507 RCV002508916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003891.1:p.Pro392Leu
CA203866
NM_003900.5:c.1175C>T