ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501836
Gene: EVC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000384115
RCV002480041
ClinVar Variation:
289224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Ser177Leu
CA2835410
NM_147127.5:c.530C>T