Canonical Allele Identifier: PA916054433
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162534
ClinVar RCV Id: RCV000735128 RCV001330649 RCV001138979 RCV002514869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg489Trp
CA295270
NM_058175.3:c.1465C>T