ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437207
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311568
ClinVar RCV Id:
RCV000348179
RCV001660628
RCV001848108
RCV002522279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile356Val
CA6911978
NM_014363.6:c.1066A>G