ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247141
Gene: COL11A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Pro334Leu
CA247139
NM_080629.3:c.1001C>T