ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573259261
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002007876
ClinVar Variation:
1475436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile1585Val
CA387527833
NM_014363.6:c.4753A>G