ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830013808
Gene: EFL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078856.4:p.Thr1069Ala
CA7697603
NM_024580.6:c.3205A>G