ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246533
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179255
RCV000616618
RCV002298506
RCV003491930
ClinVar Variation:
198043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Arg152Cys
CA246531
NM_000117.3:c.454C>T