ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826271644
Gene: PITX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179024
RCV001852224
RCV002293425
ClinVar Variation:
197883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191327.1:p.Arg137Gln
CA246272
NM_001204398.1:c.410G>A