ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664696
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448185
ClinVar RCV Id:
RCV000517352
RCV001829472
RCV002525070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Tyr3541Cys
CA6910422
NM_014363.6:c.10622A>G