ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437682
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429909
ClinVar RCV Id:
RCV000494097
RCV001829412
RCV002527093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp3913His
CA6910228
NM_014363.6:c.11737G>C