ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257710
Gene: COL11A2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_542412.2:p.Arg948Cys
NM_080681.3:c.2842C>T