ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741944993
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2892833
ClinVar RCV Id:
RCV003750595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp1955Tyr
CA387524492
NM_014363.6:c.5863G>T