ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473163
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329442
ClinVar RCV Id:
RCV000332023
RCV000676451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Arg124Leu
CA9487892
NM_014297.5:c.371G>T