ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094452
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
47015
ClinVar RCV:
RCV000032007
RCV001244900
ClinVar Variation:
38457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3636Gln
CA343112
NM_014363.6:c.10907G>A