Canonical Allele Identifier: PA645437228
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_055178.3:p.Leu426Phe
CA6911935
NM_014363.6:c.1278A>T
CA387549328
NM_014363.6:c.1278A>C