ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827174951
Gene: EFL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309773.1:p.Arg598Thr
CA393287117
NM_001322844.2:c.1793G>C