ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472014
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237014
ClinVar RCV Id:
RCV000230785
RCV001310759
RCV000594536
RCV000853050
RCV001271615
RCV002327100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Asp149His
CA10561608
NM_000117.3:c.445G>C