ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472188
Gene: EMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000331953
RCV000725045
RCV001446491
RCV001833317
RCV002365299
ClinVar Variation:
282181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Arg221Leu
CA10561657
NM_000117.3:c.662G>T