Canonical Allele Identifier: PA2741944894
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2797136
ClinVar RCV Id: RCV003751205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro1183Leu
CA6911510
NM_014363.6:c.3548C>T