ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830327735
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3236118
ClinVar RCV Id:
RCV004555379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700475.1:p.Leu124Val
CA357985399
NM_153426.3:c.370C>G