ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139731251
Gene: SACS
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055178.3:p.Ala2538Val
NM_014363.6:c.7613C>T