ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148959
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287442
ClinVar RCV Id:
RCV000284694
RCV002521973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ser441Thr
CA2189510
NM_057167.4:c.1321T>A