ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830122734
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498797
ClinVar RCV Id:
RCV000591257
RCV000624108
RCV001824151
RCV001799515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Gly1400Val
CA341212387
NM_080630.4:c.4199G>T