Canonical Allele Identifier: PA2826576103
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311563
ClinVar RCV Id: RCV000372498 RCV001060561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu279Phe
CA6911935
NM_001278055.2:c.837A>T
CA387549328
NM_001278055.2:c.837A>C