ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455481
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284791
ClinVar RCV Id:
RCV000265030
RCV001068819
RCV001141187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala2611Val
CA2187688
NM_004369.4:c.7832C>T