Canonical Allele Identifier: PA645455553
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287900
ClinVar RCV Id: RCV000382244 RCV001510350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly3170Arg
CA10605907
NM_004369.4:c.9508G>A
CA351185278
NM_004369.4:c.9508G>C