Canonical Allele Identifier: PA2826577438
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2580174
ClinVar RCV Id: RCV003329139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro2222Leu
CA387520031
NM_001278055.2:c.6665C>T