Canonical Allele Identifier: PA1139730469
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 972058
ClinVar RCV Id: RCV001247995 RCV001835319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro1184Arg
CA6911507
NM_014363.6:c.3551C>G