ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829283280
Gene: ARHGEF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2999512
ClinVar RCV Id:
RCV003854623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001382932.1:p.Pro113Leu
CA9465872
NM_001396003.1:c.338C>T