ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830146283
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291124
ClinVar RCV Id:
RCV000354464
RCV002518159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Ala772Thr
CA2189291
NM_057165.5:c.2314G>A