Canonical Allele Identifier: PA2826578572
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 373338
ClinVar RCV Id: RCV000413922 RCV000863721 RCV001111441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ile3815Leu
CA6910211
NM_001278055.2:c.11443A>T
CA387508978
NM_001278055.2:c.11443A>C