ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830160003
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356384
ClinVar RCV Id:
RCV000297620
RCV000306065
RCV000354788
RCV000406272
RCV001553516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Pro1443Leu
CA3750047
NM_080681.3:c.4328C>T