ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827882490
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721237
ClinVar RCV Id:
RCV002294918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Thr440Ile
CA353559741
NM_001354607.2:c.1319C>T