ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496179
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349170
ClinVar RCV Id:
RCV000894732
RCV000673224
RCV001569130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Leu328Phe
CA2835953
NM_153717.3:c.982C>T