ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831618
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665073
ClinVar Variation:
550349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Val3300del
CA6910544
NM_014363.6:c.9898_9900del