ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053579
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Thr999Met
CA248093
NM_057164.5:c.2996C>T