ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074229
Gene: MAPT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14245
ClinVar RCV Id:
RCV000015313
RCV000084527
RCV000763405
RCV002508757
RCV003407335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364194.1:p.Pro693Leu
CA225444
NM_001377265.1:c.2078C>T