ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826581512
Gene: ENG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000494433
RCV002455955
RCV002524049
ClinVar Variation:
430375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265067.1:p.Cys200Tyr
CA374978902
NM_001278138.2:c.599G>A