ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828795618
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365559.1:p.Glu493_Tyr501delinsAsp
CA2402343722
NM_001378630.1:c.1479_1502del