ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645468136
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282983
ClinVar RCV Id:
RCV000764653
RCV000344967
RCV002518868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001842.3:p.Arg545His
CA3882097
NM_001851.6:c.1634G>A