ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434639
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Val996Met
CA10073128
NM_001849.4:c.2986G>A