ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808701
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527999
ClinVar RCV Id:
RCV000633043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Val4492Met
CA6909957
NM_014363.6:c.13474G>A