ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645468138
Gene: COL9A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000439095
RCV001312199
ClinVar Variation:
392235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001842.3:p.Pro606Ser
CA3882005
NM_001851.6:c.1816C>T