ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455377
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335121
ClinVar RCV Id:
RCV000271199
RCV000548120
RCV001571175
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg1727Trp
CA2188724
NM_004369.4:c.5179C>T