ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830149470
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286160
ClinVar RCV Id:
RCV000353475
RCV000625838
RCV003338503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Asp1168Val
CA2188989
NM_057167.4:c.3503A>T