ClinGen Allele Registry
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Canonical Allele Identifier:
PA097788
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
32418
ClinVar RCV:
RCV000018922
RCV000414959
RCV000513905
ClinVar Variation:
17379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Arg904Cys
CA127163
NM_001844.5:c.2710C>T