ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830431274
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14272
ClinVar RCV Id:
RCV000015342
RCV000498643
RCV000826199
RCV001290155
RCV001785452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937801.1:p.Arg211del
CA645372387
NM_198158.3:c.631_633del