ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082089
Gene: PITX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1319178
ClinVar RCV Id:
RCV003238498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002644.4:p.Val133Glu
CA361028372
NM_002653.5:c.398T>A