Canonical Allele Identifier: PA2830152237
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290927
ClinVar RCV Id: RCV000394253 RCV000726572 RCV001084509 RCV001143419 RCV004543145 RCV003278744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val574Leu
CA10072126
NM_058174.3:c.1720G>C