ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808273
Gene: ETHE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000599431
ClinVar Variation:
504500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Arg163Gly
CA406175476
NM_014297.5:c.487C>G