Canonical Allele Identifier: PA233812
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 166930
ClinVar RCV Id: RCV000153082 RCV000808812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly388Arg
CA233810
NM_001849.4:c.1162G>A
CA410528257
NM_001849.4:c.1162G>C