Canonical Allele Identifier: PA916054573
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93929
ClinVar RCV Id: RCV000079868 RCV000320471 RCV000380396 RCV000710891 RCV000990369 RCV001664320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg680His
CA147453
NM_058175.3:c.2039G>A