ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741945459
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003835930
ClinVar Variation:
2974292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile4306Val
CA6910050
NM_014363.6:c.12916A>G