ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433563
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14277
ClinVar RCV Id:
RCV000015347
RCV001541066
RCV002513060
RCV003974827
RCV002281708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Ser236Pro
CA123838
NM_198178.3:c.706T>C