ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104288
Gene: EMD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000108.1:p.Arg47Trp
NM_000117.3:c.139C>T