Canonical Allele Identifier: PA916054586
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426525
ClinVar RCV Id: RCV000489066 RCV001376646
ClinVar Variation Id: 1991990
ClinVar RCV Id: RCV002814264
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ala698Val
CA410541522
NM_058175.3:c.2093C>T
CA2580098916
NM_058175.3:c.2093_2094delinsTA
CA2837994635
NM_058175.3:c.2093_2097delinsTAGGT