Canonical Allele Identifier: PA916054009
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195152
ClinVar RCV Id: RCV000724735 RCV001084510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val8Met
CA241442
NM_058175.3:c.22G>A