ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764664
Gene: LEMD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851853.1:p.Ser479Phe
CA363685391
NM_181336.4:c.1436C>T