ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150123
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194849
ClinVar RCV Id:
RCV000175313
RCV002516670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Gly1892Val
CA275050
NM_057167.4:c.5675G>T