Canonical Allele Identifier: PA645401064
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284265
ClinVar RCV Id: RCV000328793 RCV001855140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gln451Arg
CA10070260
NM_001848.3:c.1352A>G