ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573259331
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1480716
ClinVar RCV Id:
RCV002022128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp3087Asn
CA387514830
NM_014363.6:c.9259G>A