Canonical Allele Identifier: CA2668196594
Gene: CLRN1 HGNC NCBI

Linked Data

gnomAD v4: 3-150926278-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926278G>A , CM000665.2:g.150926278G>A GRCh38
NC_000003.11:g.150644065G>A , CM000665.1:g.150644065G>A GRCh37
NC_000003.10:g.152126755G>A NCBI36
NG_009168.1:g.51722C>T , LRG_700:g.51722C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*574C>T ENSP00000295911.2:n.*574C>T
ENST00000562308.5:c.104+15304C>T
ENST00000565169.1:c.162+15304C>T
ENST00000569170.5:c.162+15304C>T
NM_052995.2:c.*574C>T , LRG_700t2:c.*574C>T NP_443721.1:n.*574C>T
XR_924167.1:n.2669C>T
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