ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580259504
Gene: COL9A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002573710
ClinVar Variation:
1897980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001843.1:p.Leu335Ile
CA339852283
NM_001852.4:c.1003C>A