ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573299232
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1448483
ClinVar RCV Id:
RCV001980143
RCV003355702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Thr897Met
CA974346
NM_080629.3:c.2690C>T