ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830148964
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198165
ClinVar RCV Id:
RCV000179433
RCV002517751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val444Ile
CA246674
NM_057167.4:c.1330G>A