ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830146275
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Val762Ile
CA2189296
NM_057165.5:c.2284G>A