Canonical Allele Identifier: PA2741944998
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2901300
ClinVar RCV Id: RCV003750726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Gly1982Arg
CA387524237
NM_014363.6:c.5944G>C
CA387524238
NM_014363.6:c.5944G>A