ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074235
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14262
ClinVar RCV Id:
RCV000015331
RCV000084544
RCV000995804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364194.1:p.Ser712Phe
CA225475
NM_001377265.1:c.2135C>T