ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146550
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
260862
ClinVar RCV:
RCV000256486
RCV000291174
RCV000498501
ClinVar Variation:
266039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Val1076Met
CA2189061
NM_057165.5:c.3226G>A