ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112475
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_003891.1:p.Pro387Leu
CA203868
NM_003900.5:c.1160C>T