ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830462503
Gene: ARHGEF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003854623
ClinVar Variation:
2999512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_945353.1:p.Pro128Leu
CA9465872
NM_199002.2:c.383C>T