ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827882533
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1196677
ClinVar RCV Id:
RCV001560236
RCV003771715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Val480Met
CA77003529
NM_001354607.2:c.1438G>A