ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053762
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Lys808Glu
CA247184
NM_057167.4:c.2422A>G