ClinGen Allele Registry
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Canonical Allele Identifier:
PA645437633
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286521
ClinVar RCV Id:
RCV000329092
RCV000327882
RCV001082514
RCV003967757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys3425Arg
CA6910476
NM_014363.6:c.10274A>G