ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576872
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458265
ClinVar RCV Id:
RCV000536906
RCV000578242
RCV001848923
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp1435Asn
CA387527870
NM_001278055.2:c.4303G>A