ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580280556
Gene: PITX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1940061
ClinVar RCV Id:
RCV002658210
RCV003418574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002644.4:p.Met229Thr
CA361027723
NM_002653.5:c.686T>C