ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916014092
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805304
ClinVar RCV Id:
RCV000992798
RCV001276937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Phe2421Tyr
CA387519683
NM_014363.6:c.7262T>A