ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455062
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285680
ClinVar RCV Id:
RCV000329391
RCV001048907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Gly1003Glu
CA2189272
NM_004369.4:c.3008G>A