ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094240
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488508
ClinVar RCV Id:
RCV000578436
RCV002307552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Asp196Asn
CA9487819
NM_014297.5:c.586G>A