ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102500
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11179
ClinVar RCV Id:
RCV000011929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Pro183Thr
CA121389
NM_000117.3:c.547C>A