ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826151570
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1208422
ClinVar RCV Id:
RCV001576748
RCV002568491
ClinVar Variation Id:
1687701
ClinVar RCV Id:
RCV002251675
RCV003094100
RCV003971211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171896.1:p.Gly448Arg
CA2490690
NM_001184967.2:c.1342G>A
CA2490691
NM_001184967.2:c.1342G>C