ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472171
Gene: EMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000303060
RCV002519189
ClinVar Variation:
285707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Pro183Leu
CA10605214
NM_000117.3:c.548C>T