ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664531
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458259
ClinVar RCV Id:
RCV000545527
RCV001834757
RCV001848921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Val851Phe
CA6911670
NM_014363.6:c.2551G>T