Canonical Allele Identifier: PA645434353
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288567
ClinVar RCV Id: RCV000694478 RCV000726187 RCV001270045 RCV002519307
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ala875Thr
CA10072954
NM_001849.4:c.2623G>A