ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826111896
Gene: LMX1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438683
ClinVar RCV Id:
RCV000505642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167618.1:p.Cys59Phe
CA374909920
NM_001174147.2:c.176G>T