ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828709300
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357811
ClinVar RCV Id:
RCV000991647
RCV001375076
RCV002278615
RCV003950271
RCV003447524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364219.1:p.Pro58Leu
CA3882594
NM_001377290.1:c.173C>T