Canonical Allele Identifier: PA098374
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17182
ClinVar RCV Id: RCV000018722 RCV000497629 RCV001216604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly281Arg
CA257743
NM_001848.3:c.841G>A
CA410521566
NM_001848.3:c.841G>C