ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240401
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194445
ClinVar RCV Id:
RCV000174813
RCV002517680
RCV004020071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Arg643His
CA240400
NM_153717.3:c.1928G>A