ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830327709
Gene: PITX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416527
ClinVar Variation:
375437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700475.1:p.Pro110Leu
CA16044258
NM_153426.3:c.329C>T