ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454657
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282269
ClinVar RCV Id:
RCV000354532
RCV001224663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg336Gln
CA2189728
NM_004369.4:c.1007G>A