Canonical Allele Identifier: PA645434443
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288414
ClinVar RCV Id: RCV000265744 RCV000705599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val917Met
CA10073004
NM_001849.4:c.2749G>A