ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102491
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11178
ClinVar RCV Id:
RCV001224353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Pro183His
CA121387
NM_000117.3:c.548C>A