Canonical Allele Identifier: PA645401142
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283178
ClinVar RCV Id: RCV000289318 RCV000653576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp636Glu
CA10604415
NM_001848.3:c.1908C>G
CA410533576
NM_001848.3:c.1908C>A