Canonical Allele Identifier: PA2829327862
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185146
ClinVar RCV Id: RCV002619671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Pro257Leu
CA410523508
NM_001849.4:c.770C>T