ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580513859
Gene: EVC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2419617
ClinVar RCV Id:
RCV003115502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Ser604Leu
CA356147647
NM_147127.5:c.1811C>T