ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295260
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Lys40Glu
CA295258
NM_001849.4:c.118A>G