ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830159652
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
907893
ClinVar RCV Id:
RCV001158059
RCV001158061
RCV001158060
RCV001346855
RCV001375154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Arg1150Cys
CA3750390
NM_080681.3:c.3448C>T