ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058474
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214321
ClinVar RCV Id:
RCV000199428
RCV000814742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Arg148His
CA323980
NM_001320867.2:c.443G>A