ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054186
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284768
ClinVar RCV Id:
RCV000384759
RCV001216066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Gly262Asp
CA10604901
NM_058175.3:c.785G>A