Canonical Allele Identifier: PA645433811
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425279
ClinVar RCV Id: RCV000488099 RCV001452859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp870Asn
CA10072948
NM_001849.4:c.2608G>A