ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058511
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488508
ClinVar RCV Id:
RCV000578436
RCV002307552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Asp185Asn
CA9487819
NM_001320867.2:c.553G>A