ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830145439
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499309
ClinVar RCV Id:
RCV000597773
RCV001206779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Asp656Asn
CA2189224
NM_057164.5:c.1966G>A