ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576619
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972058
ClinVar RCV Id:
RCV001247995
RCV001835319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro1037Arg
CA6911507
NM_001278055.2:c.3110C>G