Canonical Allele Identifier: PA658659338
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452893
ClinVar RCV Id: RCV000729140 RCV001226905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg885Cys
CA10070992
NM_001848.3:c.2653C>T