ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829854978
Gene: MAPT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015316
RCV000084554
RCV002476970
ClinVar Variation:
14247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058518.1:p.Arg348Trp
CA225495
NM_016834.5:c.1042C>T