ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354817
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2417044
ClinVar RCV Id:
RCV003111872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ser3213Gly
CA6910592
NM_014363.6:c.9637A>G