ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689387
Gene: CHRNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000071.1:p.Pro486Leu
CA397297254
NM_000080.4:c.1457C>T