ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580481796
Gene: EFCAB7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115813.2:p.Gln59Lys
CA888812
NM_032437.4:c.175C>A