ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499228590
Gene: EMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001341532
ClinVar Variation:
1038252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Pro183Ser
CA415258788
NM_000117.3:c.547C>T