ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148812
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285629
ClinVar RCV Id:
RCV000298554
RCV001228546
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg259Gln
CA2189629
NM_057167.4:c.776G>A