ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139708190
Gene: NDUFS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002486.1:p.Ala2Glu
CA3264121
NM_002495.4:c.5C>A