ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830121516
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
984725
ClinVar RCV:
RCV001291838
RCV002538407
ClinVar Variation:
997012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Pro616Ser
CA974564
NM_080630.4:c.1846C>T