ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664589
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458265
ClinVar RCV Id:
RCV000536906
RCV000578242
RCV001848923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp1582Asn
CA387527870
NM_014363.6:c.4744G>A