Canonical Allele Identifier: PA645437230
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311562
ClinVar RCV Id: RCV000317718 RCV000464896 RCV000712962 RCV001848106
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro488Leu
CA6911912
NM_014363.6:c.1463C>T