Canonical Allele Identifier: PA094423
Gene: SACS HGNC NCBI
ClinVar Allele:
20553
ClinVar RCV:
RCV000005849
ClinVar Variation:
5514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala4074Pro
CA253511
NM_014363.6:c.12220G>C