ClinGen Allele Registry
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Canonical Allele Identifier:
PA658676851
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
443195
ClinVar RCV:
RCV000523100
RCV001141519
RCV001297709
ClinVar Variation:
452912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala1502Thr
CA67816612
NM_004369.4:c.4504G>A