ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273727
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178390
ClinVar RCV:
RCV000157061
ClinVar Variation:
180208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ser1197Pro
CA273726
NM_014363.6:c.3589T>C