ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826151568
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2113344
ClinVar RCV Id:
RCV003027274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171896.1:p.Pro447Ser
CA16040406
NM_001184967.2:c.1339C>T