ClinGen Allele Registry
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Canonical Allele Identifier:
PA257708
Gene: COL11A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018662
RCV000605765
RCV001091818
RCV003398542
ClinVar Variation:
17124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Arg1034Cys
CA257707
NM_080680.3:c.3100C>T