ClinGen Allele Registry
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Canonical Allele Identifier:
PA645412209
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291500
ClinVar RCV Id:
RCV000310065
RCV000399173
RCV004543154
RCV001567972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Pro1511Ser
CA973507
NM_080629.3:c.4531C>T