ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573266270
Gene: PLCE1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057425.3:p.Tyr1788Ter
NM_016341.4:c.5363dup
NM_016341.4:c.5364C>A
NM_016341.4:c.5364C>G