ClinGen Allele Registry
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Canonical Allele Identifier:
PA658659317
Gene: COL6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Arg731His
CA10070789
NM_001848.3:c.2192G>A