Canonical Allele Identifier: PA916054547
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283010
ClinVar RCV Id: RCV000283767 RCV002059121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu655Lys
CA10072348
NM_058175.3:c.1963G>A