ClinGen Allele Registry
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Canonical Allele Identifier:
PA915969758
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000522898
RCV001158464
RCV001158465
RCV004541630
ClinVar Variation:
449781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Val159Met
CA4292496
NM_001081754.3:c.475G>A