ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147043
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274174
ClinVar RCV:
RCV000653597
RCV000726400
RCV000765645
RCV001136882
ClinVar Variation:
289937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Arg468Trp
CA2189211
NM_057166.5:c.1402C>T