ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058374
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137240
ClinVar RCV Id:
RCV000124925
RCV000224357
RCV000288835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Ala21Ser
CA290780
NM_001320867.2:c.61G>T