ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580316205
Gene: NDUFB8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004995.1:p.Gly172Ser
CA212930414
NM_005004.4:c.514G>A