Canonical Allele Identifier: PA242948
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196119
ClinVar RCV Id: RCV000176863 RCV000416019 RCV001082268 RCV001143620 RCV004539642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ser895Arg
CA242946
NM_001849.4:c.2683A>C
CA410549005
NM_001849.4:c.2685C>A
CA410549006
NM_001849.4:c.2685C>G