Canonical Allele Identifier: PA098440
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17173
ClinVar RCV Id: RCV000018713 RCV000177135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys121Arg
CA221786
NM_001848.3:c.362A>G