ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117706
Gene: TIMM50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001563.2:p.Gln313Glu
CA405790432
NM_001001563.5:c.937C>G