ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829243940
Gene: PDE1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004192814
ClinVar Variation:
2354342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001382193.1:p.Ile447Thr
CA2012470
NM_001395264.1:c.1340T>C