Canonical Allele Identifier: PA2829763948
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2197914
ClinVar RCV Id: RCV002640284
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu1132Phe
CA246662273
NM_014363.6:c.3396A>T
CA387535487
NM_014363.6:c.3396A>C