ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455459
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274597
ClinVar RCV:
RCV000331230
ClinVar Variation:
290360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg2422Gly
CA10606750
NM_004369.4:c.7264C>G