ClinGen Allele Registry
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Canonical Allele Identifier:
PA645434526
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284809
ClinVar RCV Id:
RCV000371289
RCV001086987
RCV004543053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Ala961Val
CA10073076
NM_001849.4:c.2882C>T