ClinGen Allele Registry
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Canonical Allele Identifier:
CA8313854
Gene: CHRNE
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.4898892del , CM000679.2:g.4898892del
GRCh38
NC_000017.10:g.4802187del , CM000679.1:g.4802187del
GRCh37
NC_000017.9:g.4742966del
NCBI36
NG_008029.2:g.9185del
NG_028005.1:g.70553del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649488.2:c.1327del
ENST00000649830.1:c.503del
ENSP00000496907.1:p.Gly168GlufsTer?
ENST00000652550.1:n.1057-4del
ENST00000293780.4:c.1327del
ENST00000572438.1:n.1013del
NM_000080.3:c.1327del
NM_000080.4:c.1327del
XM_017024115.1:c.1291del
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