ClinGen Allele Registry
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Canonical Allele Identifier:
PA645433274
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg453His
CA10575986
NM_001849.4:c.1358G>A