ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916067981
Gene: LARGE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167251
ClinVar RCV Id:
RCV000153444
RCV001304157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598397.1:p.Arg526His
CA234211
NM_133642.5:c.1577G>A