ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058560
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_001307797.1:p.Thr13Ala
CA406175649
NM_001320868.2:c.37A>G