ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828709772
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449774
ClinVar RCV Id:
RCV000732119
RCV000764655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364220.1:p.Arg118Gln
CA3882832
NM_001377291.1:c.353G>A