Canonical Allele Identifier: PA916054542
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 575898
ClinVar RCV Id: RCV000698242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly646Asp
CA10072338
NM_058175.3:c.1937G>A