ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499228573
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1060231
ClinVar RCV Id:
RCV001369629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Glu11Lys
CA415256924
NM_000117.3:c.31G>A