Canonical Allele Identifier: PA2830152410
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195954
ClinVar RCV Id: RCV000176645 RCV001368873
ClinVar Variation Id: 1060752
ClinVar RCV Id: RCV001370221
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly700Ser
CA242678
NM_058174.3:c.2098G>A
CA2499225995
NM_058174.3:c.2097_2098delinsTA