ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139746279
Gene: COL11A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Asp482His
CA974993
NM_080629.3:c.1444G>C