ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471997
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379342
ClinVar RCV Id:
RCV000422963
RCV000537218
RCV001828405
RCV002402135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Ala56Thr
CA16608347
NM_000117.3:c.166G>A