ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA290781
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_055112.2:p.Ala21Ser
CA290780
NM_014297.5:c.61G>T