ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829328695
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2782495
ClinVar RCV Id:
RCV003631392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Ile626Val
CA410538603
NM_001849.4:c.1876A>G