ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440577
Gene: CHRNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426568
ClinVar RCV Id:
RCV000489356
RCV001276663
RCV001344117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000071.1:p.Leu485Phe
CA397297281
NM_000080.4:c.1453C>T