ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094276
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496426
ClinVar RCV Id:
RCV000587866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Thr136Ala
CA406175649
NM_014297.5:c.406A>G