ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354449
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2184234
ClinVar RCV Id:
RCV002632187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asn1489His
CA6911387
NM_014363.6:c.4465A>C