ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827881775
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2944084
ClinVar RCV Id:
RCV003805834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341534.1:p.Leu480Pro
CA353559856
NM_001354605.2:c.1439T>C