ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829329089
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg750His
CA10072484
NM_001849.4:c.2249G>A