ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323914
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214318
ClinVar RCV Id:
RCV000199378
RCV001248482
RCV002515394
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Ile114Phe
CA323913
NM_014297.5:c.340A>T