ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437254
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281206
ClinVar RCV Id:
RCV000373496
RCV000681647
RCV002519084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile999Thr
CA6911580
NM_014363.6:c.2996T>C