ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347122
Gene: LYST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000192051
ClinVar Variation:
180630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288294.1:p.Cys3701Phe
CA347118
NM_001301365.1:c.11102G>T