ClinGen Allele Registry
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Canonical Allele Identifier:
PA172469
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004728.1:p.Ser84Thr
CA172468
NM_004737.7:c.251G>C