Canonical Allele Identifier: PA2573295391
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353130
ClinVar RCV Id: RCV001885453
ClinVar Variation Id: 1471032
ClinVar RCV Id: RCV001995369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val616Leu
CA10072309
NM_058175.3:c.1846G>T
CA410538470
NM_058175.3:c.1846G>C