Canonical Allele Identifier: PA645434452
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285718
ClinVar RCV Id: RCV000286874 RCV000653507 RCV001330654 RCV001139297
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val929Met
CA10073022
NM_001849.4:c.2785G>A