ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828492454
Gene: MFSD8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
16045
ClinVar RCV:
RCV000001061
RCV001781155
RCV001826401
RCV002371752
ClinVar Variation:
1006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358519.1:p.Thr249Lys
CA339858
NM_001371590.1:c.746C>A