ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576730
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193706
ClinVar RCV Id:
RCV000194599
RCV000515329
RCV001082339
RCV000710206
RCV001847803
RCV003937553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Met1212Thr
CA208864
NM_001278055.2:c.3635T>C