Canonical Allele Identifier: PA221769
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93849
ClinVar RCV Id: RCV000079786 RCV000383575 RCV000794035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg731Cys
CA221767
NM_001848.3:c.2191C>T