ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576877
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527996
ClinVar RCV Id:
RCV000633040
RCV001111812
RCV001508703
RCV001849005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asn1439Ser
CA6911347
NM_001278055.2:c.4316A>G