ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148593
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267643
ClinVar RCV:
RCV000349824
RCV000689510
ClinVar Variation:
283406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Tyr2463Cys
CA2187330
NM_057166.5:c.7388A>G