ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247140
Gene: COL11A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro322Leu
CA247139
NM_001854.4:c.965C>T