ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145448
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Val662Met
CA2189216
NM_057164.5:c.1984G>A