ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664472
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450612
ClinVar RCV Id:
RCV000522808
RCV002525178
RCV001834696
RCV004023576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg37His
CA387554542
NM_014363.6:c.110G>A