ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825841676
Gene: SPART
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135768.1:p.Ala590Val
CA6949284
NM_001142296.2:c.1769C>T