ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094203
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282207
ClinVar RCV Id:
RCV000367029
RCV000653516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Val1985Met
CA2188513
NM_004369.4:c.5953G>A