ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053828
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289131
ClinVar RCV Id:
RCV000294987
RCV000658902
RCV001081807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Thr934Met
CA2189174
NM_057167.4:c.2801C>T