ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580392628
Gene: UFL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056138.1:p.Leu514Val
CA365104498
NM_015323.5:c.1540C>G