ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729895
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949829
ClinVar RCV Id:
RCV001221388
RCV001836169
RCV003294062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Tyr159His
CA387552158
NM_014363.6:c.475T>C