ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433186
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722868
ClinVar RCV Id:
RCV002305975
RCV003098033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Pro476Leu
CA353559958
NM_198177.3:c.1427C>T