ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664521
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448197
ClinVar RCV Id:
RCV000518207
RCV001083870
RCV001113726
RCV002525071
RCV001848890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ala629Thr
CA6911833
NM_014363.6:c.1885G>A