ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146367
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285464
ClinVar RCV Id:
RCV000274489
RCV000653619
RCV003165744
RCV000259898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Val863Met
CA2189216
NM_057165.5:c.2587G>A