Canonical Allele Identifier: PA645400698
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282490
ClinVar RCV Id: RCV000322847 RCV002521881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val186Leu
CA10604197
NM_001848.3:c.556G>C