ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828709532
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392235
ClinVar RCV Id:
RCV000439095
RCV001312199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364219.1:p.Pro363Ser
CA3882005
NM_001377290.1:c.1087C>T