ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146124
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191156
ClinVar RCV Id:
RCV000171340
RCV001243937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Arg562Gly
CA236133
NM_057165.5:c.1684C>G