Canonical Allele Identifier: PA2826578004
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 994741
ClinVar RCV Id: RCV001288379 RCV002537971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Phe3026Leu
CA6910612
NM_001278055.2:c.9078T>G
CA387514257
NM_001278055.2:c.9078T>A
CA387514262
NM_001278055.2:c.9076T>C