Canonical Allele Identifier: PA916054562
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93928
ClinVar RCV Id: RCV000079867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ser666Arg
CA221816
NM_058175.3:c.1998C>G
CA410539653
NM_058175.3:c.1996A>C
CA410539676
NM_058175.3:c.1998C>A