ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081099225
Gene: EFS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005855.1:p.Val100Met
CA7113643
NM_005864.4:c.298G>A