ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100512
Gene: MAPT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015329
RCV000084552
ClinVar Variation:
14260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058519.3:p.Lys686Ile
CA225492
NM_016835.5:c.2057A>T