ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150937
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197483
ClinVar RCV Id:
RCV000178531
RCV000818011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2957Thr
CA245660
NM_057167.4:c.8869G>A