ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053784
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000259898
RCV000274489
RCV000653619
RCV003165744
ClinVar Variation:
285464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val863Met
CA2189216
NM_057167.4:c.2587G>A