ClinGen Allele Registry
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Canonical Allele Identifier:
PA645421415
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356402
ClinVar RCV Id:
RCV000276412
RCV000319359
RCV000333898
RCV000353689
RCV000602277
RCV001559646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Ile728Phe
CA3751010
NM_080680.3:c.2182A>T