ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147495
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Leu1119Arg
CA257718
NM_057166.5:c.3356T>G