Canonical Allele Identifier: PA2826577033
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448206
ClinVar RCV Id: RCV000518362 RCV001109528 RCV001433538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys1650Asn
CA6911253
NM_001278055.2:c.4950G>C
CA387525772
NM_001278055.2:c.4950G>T