Canonical Allele Identifier: PA645433450
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288448
ClinVar RCV Id: RCV000397775 RCV000685619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg724Leu
CA10072458
NM_001849.4:c.2171G>T