ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817437
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499670
ClinVar RCV Id:
RCV000591218
RCV003631135
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg341Leu
CA351222413
NM_004369.4:c.1022G>T