ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830151838
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288278
ClinVar RCV Id:
RCV000537791
RCV000394295
RCV001136630
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Glu210Lys
CA10071356
NM_058174.3:c.628G>A