ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066503839
Gene: SP110
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004500.4:p.Leu425Trp
CA2154576
NM_004509.5:c.1274T>G