ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830130180
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356389
ClinVar RCV Id:
RCV000280238
RCV000300075
RCV000408334
RCV000408369
RCV000657971
RCV002523565
RCV000609757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Ser1135Leu
CA3750387
NM_080679.3:c.3404C>T