ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433637
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692270
ClinVar RCV Id:
RCV002255873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Thr285Ile
CA353559686
NM_198178.3:c.854C>T