ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351290
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242492
ClinVar RCV Id:
RCV001843500
RCV001848018
RCV002305471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3875His
CA351289
NM_014363.6:c.11624G>A