Canonical Allele Identifier: PA658664481
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448222
ClinVar RCV Id: RCV000517365 RCV000728923 RCV001085212 RCV001112465 RCV001848897 RCV003962434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe270Leu
CA6912021
NM_014363.6:c.810T>G
CA6912022
NM_014363.6:c.808T>C
CA387551089
NM_014363.6:c.810T>A