ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825045031
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810423
ClinVar RCV Id:
RCV000999220
RCV001069948
RCV002481795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Thr617Met
CA5252620
NM_000118.3:c.1850C>T