ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150008
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Met1786Thr
CA2188508
NM_057167.4:c.5357T>C