ClinGen Allele Registry
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Canonical Allele Identifier:
PA127089
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17121
ClinVar RCV Id:
RCV000018658
RCV001851920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Gly575Arg
CA127087
NM_080681.3:c.1723G>A
CA3751090
NM_080681.3:c.1723G>C