ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825044154
Gene: ENG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001764537
RCV002231269
ClinVar Variation:
458349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Thr193Met
CA5253082
NM_000118.3:c.578C>T