Canonical Allele Identifier: PA645434537
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340385
ClinVar RCV Id: RCV000328906 RCV000385853 RCV000694258 RCV001569334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val973Met
CA10073095
NM_001849.4:c.2917G>A