ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131120
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000035105
RCV000756071
RCV000770588
RCV001085397
RCV002426545
ClinVar Variation:
42272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Asn91Ser
CA131118
NM_000117.3:c.272A>G