Canonical Allele Identifier: PA2742003039
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782495
ClinVar RCV Id: RCV003631392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ile626Val
CA410538603
NM_058175.3:c.1876A>G