ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576215
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2428011
ClinVar RCV Id:
RCV003116982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp421Asn
CA6911866
NM_001278055.2:c.1261G>A