ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825044596
Gene: ENG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Lys347Arg
CA5252894
NM_000118.3:c.1040A>G