Canonical Allele Identifier: PA916054243
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289114
ClinVar RCV Id: RCV000657920 RCV000591727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly283Glu
CA10606332
NM_058175.3:c.848G>A