ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808699
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000633036
ClinVar Variation:
527992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.His4337Asp
CA387506211
NM_014363.6:c.13009C>G