ClinGen Allele Registry
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Canonical Allele Identifier:
PA658664481
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Phe270Leu
CA6912021
NM_014363.6:c.810T>G
CA6912022
NM_014363.6:c.808T>C
CA387551089
NM_014363.6:c.810T>A