Canonical Allele Identifier: PA645434382
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286027
ClinVar RCV Id: RCV000330968 RCV000800722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu887Lys
CA10605333
NM_001849.4:c.2659G>A