ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808483
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527974
ClinVar RCV Id:
RCV000633012
RCV002529815
RCV001835012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ser28Phe
CA387554637
NM_014363.6:c.83C>T