Canonical Allele Identifier: PA253517
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 5519
ClinVar RCV Id: RCV000005854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Trp3101Arg
CA253516
NM_001278055.2:c.9301T>C
CA387513757
NM_001278055.2:c.9301T>A