ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830152346
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283010
ClinVar RCV Id:
RCV000283767
RCV002059121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Glu655Lys
CA10072348
NM_058174.3:c.1963G>A