ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053508
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
272635
ClinVar RCV:
RCV000367618
RCV000388800
RCV000815769
ClinVar Variation:
288398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Arg894Trp
CA501184
NM_057164.5:c.2680C>T