ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576744
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235380
ClinVar RCV Id:
RCV000290021
RCV000224523
RCV001112284
RCV001084237
RCV001847949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ala1226Val
CA6911430
NM_001278055.2:c.3677C>T