ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499228586
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199347
ClinVar RCV Id:
RCV001563915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Glu145Lys
CA415258284
NM_000117.3:c.433G>A