ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433161
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434815
ClinVar RCV Id:
RCV000499945
RCV001063163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly301Val
CA410525586
NM_001849.4:c.902G>T