ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139668128
Gene: EMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001071300
ClinVar Variation:
864177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Arg46Trp
CA415257468
NM_000117.3:c.136C>T