ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295292
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162541
ClinVar RCV Id:
RCV000559107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly304Val
CA295290
NM_001849.4:c.911G>T