Canonical Allele Identifier: PA645434391
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288305
ClinVar RCV Id: RCV000268727 RCV000326181 RCV000327831 RCV000822191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu903Lys
CA10072983
NM_001849.4:c.2707G>A