ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097826
Gene: LYST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000072.2:p.Val1999Asp
NM_000081.4:c.5996T>A