ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254052
Gene: LMX1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001167617.1:p.Gln82Ter
NM_001174146.2:c.244C>T