ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275348
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198136
ClinVar RCV Id:
RCV000179391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly271Asp
CA275346
NM_001849.4:c.812G>A