ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400358
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430375
ClinVar RCV Id:
RCV000494433
RCV002455955
RCV002524049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Cys382Tyr
CA374978902
NM_001114753.3:c.1145G>A