ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150796
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286480
ClinVar RCV Id:
RCV000328502
RCV001088627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2758Val
CA2187420
NM_057167.4:c.8273C>T