ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830130363
Gene: COL11A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
174502
ClinVar RCV:
RCV000150349
RCV000764645
RCV001560335
ClinVar Variation:
162981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Pro1240Gln
CA175561
NM_080679.3:c.3719C>A