ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830146438
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284774
ClinVar RCV Id:
RCV000405233
RCV000689188
RCV000725525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Arg943Trp
CA2189167
NM_057165.5:c.2827C>T