ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830158913
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46556
ClinVar RCV Id:
RCV000039826
RCV000268570
RCV000305029
RCV000319689
RCV000359665
RCV000659336
RCV000709864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Arg453Trp
CA138614
NM_080681.3:c.1357C>T