ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA225445
Gene: MAPT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_058518.1:p.Pro243Leu
NM_016834.5:c.728C>T