ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148774
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
100803
ClinVar RCV:
RCV000080908
RCV000334177
RCV000658903
RCV001083886
ClinVar Variation:
94903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Leu205Val
CA147903
NM_057167.4:c.613C>G