ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830151935
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Gly295Glu
CA410525283
NM_058174.3:c.884G>A