ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131135
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42277
ClinVar RCV Id:
RCV000035110
RCV001703449
RCV001852704
RCV003492339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Met191Val
CA131133
NM_000117.3:c.571A>G