ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335170
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201780
ClinVar RCV Id:
RCV000465491
RCV001827988
RCV002390469
RCV003491933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Glu35Lys
CA335168
NM_000117.3:c.103G>A