ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829328364
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1365022
ClinVar RCV:
RCV002017875
ClinVar Variation:
1509401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg489Gly
CA410531926
NM_001849.4:c.1465C>G