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ClinGen Allele Registry
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Canonical Allele Identifier:
CA5617302
Community Standard Title: NM_000771.4(CYP2C9):c.1080C>A (p.Asp360Glu)
Gene: CYP2C9
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94981301C>A , CM000672.2:g.94981301C>A
GRCh38
NC_000010.10:g.96741058C>A , CM000672.1:g.96741058C>A
GRCh37
NC_000010.9:g.96731048C>A
NCBI36
NG_008385.1:g.47644C>A
NG_008385.2:g.48144C>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000771.4:c.1080C>A
MANE Select
NP_000762.2:p.Asp360Glu
ENST00000260682.8:c.1080C>A
MANE Select
ENSP00000260682.6:p.Asp360Glu
NM_000771.3:c.1080C>A
NP_000762.2:p.Asp360Glu
ENST00000260682.6:c.1080C>A
ENSP00000260682.6:p.Asp360Glu
ENST00000643112.1:c.*89C>A
ENSP00000496202.1:n.*89C>A
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