ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830001795
Gene: AKTIP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071921.1:p.Pro53Ser
CA8057062
NM_022476.4:c.157C>T