ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455282
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284145
ClinVar RCV Id:
RCV000396878
RCV001041627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asp1483Val
CA2188893
NM_004369.4:c.4448A>T