ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812412
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595526
RCV000945889
RCV001272634
RCV001575025
RCV003962674
ClinVar Variation:
498649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Thr347Met
CA2835965
NM_153717.3:c.1040C>T