Canonical Allele Identifier: PA242540
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195871
ClinVar RCV Id: RCV000176544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Cys611Arg
CA242538
NM_001849.4:c.1831T>C