ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434379
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285730
ClinVar RCV Id:
RCV000265343
RCV000702321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly886Ser
CA10072967
NM_001849.4:c.2656G>A