ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825123327
Gene: PITX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008551
ClinVar Variation:
8083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000316.2:p.Leu107Gln
CA119281
NM_000325.6:c.320T>A