ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828789449
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365553.1:p.Val474Ile
CA206175
NM_001378624.1:c.1420G>A