ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580299381
Gene: MBD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2353473
ClinVar RCV Id:
RCV002969213
RCV003699004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003916.1:p.Ser196Leu
CA2605502
NM_003925.3:c.587C>T