ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573238374
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1363424
ClinVar RCV Id:
RCV002252713
RCV001934892
RCV003375384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Gly2773Ser
CA2187576
NM_004369.4:c.8317G>A