ClinGen Allele Registry
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Canonical Allele Identifier:
PA285635
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004728.1:p.Arg650Gln
CA285634
NM_004737.7:c.1949G>A