ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830158190
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2705628
ClinVar RCV Id:
RCV003575525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Ala1080Gly
CA341171311
NM_080629.3:c.3239C>G