ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254049
Gene: LMX1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7003
ClinVar RCV Id:
RCV000007418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167617.1:p.Cys118Phe
CA254048
NM_001174146.2:c.353G>T