ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207091
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212112
ClinVar RCV Id:
RCV000193535
RCV000338267
RCV000470007
RCV001083422
RCV001847871
RCV003907705
RCV004020340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Gln1143Lys
CA207090
NM_014363.6:c.3427C>A