ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667443
Gene: EVC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461812
ClinVar RCV Id:
RCV000550439
RCV000734269
RCV001151786
RCV001567553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Ala305Ser
CA2835223
NM_147127.5:c.913G>T