ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828795387
Gene: LARGE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660773
ClinVar RCV Id:
RCV000818043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365559.1:p.Gln285Arg
CA323711562
NM_001378630.1:c.854A>G