ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455090
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
269011
ClinVar RCV:
RCV000405233
RCV000689188
RCV000725525
ClinVar Variation:
284774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg1149Trp
CA2189167
NM_004369.4:c.3445C>T