ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830455009
Gene: CATIP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940961.1:p.His222Tyr
CA2104482
NM_198559.2:c.664C>T