ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150651
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500364
ClinVar RCV Id:
RCV000594529
RCV001057134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val2587Ile
CA2187566
NM_057167.4:c.7759G>A