ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053595
Gene: COL6A3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_476507.3:p.Arg58Ter
NM_057166.5:c.172C>T