ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741965486
Gene: NGEF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_062824.2:p.Gln197Arg
CA2171764
NM_019850.3:c.590A>G