ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490947
Gene: PLCE1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057425.3:p.Thr1777Ile
NM_016341.4:c.5330C>T