ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432756
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290526
ClinVar RCV Id:
RCV000306725
RCV002519342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Glu32Lys
CA10071176
NM_001849.4:c.94G>A