ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578112
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003108352
ClinVar Variation:
2414517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile3162Val
CA387513358
NM_001278055.2:c.9484A>G