ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053482
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
266039
ClinVar RCV Id:
RCV000256486
RCV000291174
RCV000498501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Val875Met
CA2189061
NM_057164.5:c.2623G>A