ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573299133
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001921516
ClinVar Variation:
1424261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Pro743Ser
CA974566
NM_080629.3:c.2227C>T