Canonical Allele Identifier: PA645437575
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311521
ClinVar RCV Id: RCV000306392 RCV000516257 RCV001477679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe2674Leu
CA6910830
NM_014363.6:c.8022T>G
CA387517557
NM_014363.6:c.8022T>A
CA387517562
NM_014363.6:c.8020T>C