Canonical Allele Identifier: PA913196955
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598977
ClinVar RCV Id: RCV000735341 RCV001217548 RCV003144579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr670Ala
CA10072408
NM_001849.4:c.2008A>G