Canonical Allele Identifier: PA645434582
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340386
ClinVar RCV Id: RCV000278533 RCV000389290 RCV001343854 RCV003137965
ClinVar Variation Id: 1433398
ClinVar RCV Id: RCV001944416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg993His
CA10073123
NM_001849.4:c.2978G>A
CA2573157660
NM_001849.4:c.2978_2979delinsAT