ClinGen Allele Registry
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Canonical Allele Identifier:
PA3088321375
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg680Leu
CA321972632
NM_001849.4:c.2039G>T