ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810803
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521397
ClinVar RCV Id:
RCV000624324
RCV002532835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly301Asp
CA410525581
NM_001849.4:c.902G>A