ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829348575
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000310065
RCV000399173
RCV001567972
RCV004543154
ClinVar Variation:
291500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro1499Ser
CA973507
NM_001854.4:c.4495C>T