ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732038
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938832
ClinVar RCV Id:
RCV001208129
RCV001828667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3706Val
CA6910338
NM_014363.6:c.11116A>G