ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455002
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
286109
ClinVar RCV:
RCV000346069
RCV001239780
RCV003137962
RCV004021805
ClinVar Variation:
335139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Thr525Met
CA2189591
NM_004369.4:c.1574C>T