ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150607
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476560
ClinVar RCV Id:
RCV000539637
RCV003488694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg2528Gln
CA2187602
NM_057167.4:c.7583G>A