ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825105634
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947777
ClinVar RCV Id:
RCV003804407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Gln291Glu
CA353559333
NM_000248.4:c.871C>G