ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335161
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201777
ClinVar RCV Id:
RCV000183446
RCV000638226
RCV001271620
RCV003491932
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Pro224Leu
CA335159
NM_000117.3:c.671C>T