ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472009
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237013
ClinVar RCV Id:
RCV000725641
RCV000770590
RCV001081535
RCV001729471
RCV002327099
RCV001828104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Ser143Phe
CA10561604
NM_000117.3:c.428C>T