Canonical Allele Identifier: PA2826579026
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2966729
ClinVar RCV Id: RCV003828863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Met4428Ile
CA6909929
NM_001278055.2:c.13284G>A
CA387504611
NM_001278055.2:c.13284G>C
CA387504612
NM_001278055.2:c.13284G>T