ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053637
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451667
ClinVar RCV Id:
RCV000520483
RCV000653583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Val871Met
CA2188895
NM_057166.5:c.2611G>A