Canonical Allele Identifier: PA645437577
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 416832
ClinVar RCV Id: RCV000518400 RCV001084809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys2709Asn
CA6910817
NM_014363.6:c.8127A>C
CA387517318
NM_014363.6:c.8127A>T