ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830432856
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000424648
RCV003766333
ClinVar Variation:
387380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Glu298Gln
CA16605010
NM_198177.3:c.892G>C