ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053413
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
413594
ClinVar RCV:
RCV000487720
RCV000821173
RCV001731716
ClinVar Variation:
425260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Leu816Pro
CA2189121
NM_057164.5:c.2447T>C