ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830152231
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Arg569Gln
CA10072124
NM_058174.3:c.1706G>A