ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499278527
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1033689
ClinVar RCV Id:
RCV001336180
RCV002547351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Val543Met
CA6911882
NM_014363.6:c.1627G>A