ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454659
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
269202
ClinVar RCV:
RCV000313136
RCV001139348
RCV001859611
ClinVar Variation:
284965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg341His
CA2189721
NM_004369.4:c.1022G>A