ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433708
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
900478
ClinVar RCV Id:
RCV001145711
RCV001145712
RCV002557119
RCV003130165
RCV003963084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Gly337Glu
CA2490692
NM_198178.3:c.1010G>A