Canonical Allele Identifier: PA658659360
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476434
ClinVar RCV Id: RCV000529864 RCV000661925 RCV003144369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val971Met
CA10071071
NM_001848.3:c.2911G>A