Canonical Allele Identifier: PA2580501692
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2037017
ClinVar RCV Id: RCV002882101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ala673Asp
CA10072411
NM_058175.3:c.2018C>A