Canonical Allele Identifier: PA658664611
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448211
ClinVar RCV Id: RCV000518243 RCV000803901 RCV001783017 RCV003960224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys2010Asn
CA6911148
NM_014363.6:c.6030G>T
CA387524054
NM_014363.6:c.6030G>C