ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455113
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288398
ClinVar RCV Id:
RCV000367618
RCV000388800
RCV000815769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg1301Trp
CA501184
NM_004369.4:c.3901C>T