ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578861
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000633036
ClinVar Variation:
527992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.His4190Asp
CA387506211
NM_001278055.2:c.12568C>G