ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664501
Gene: SACS
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055178.3:p.Thr507Ala
NM_014363.6:c.1519A>G