ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573241430
Gene: UQCRFS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005994.2:p.Ser6Ala
CA9350903
NM_006003.3:c.16T>G