ClinGen Allele Registry
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Canonical Allele Identifier:
PA915960388
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000264197
RCV000300585
RCV000304723
RCV000344354
RCV000355389
RCV000359478
RCV000393111
RCV003766004
ClinVar Variation:
347300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000316.2:p.Gln75Pro
CA3045542
NM_000325.6:c.224A>C