ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645448969
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346499
ClinVar RCV Id:
RCV000277062
RCV000325041
RCV000615223
RCV000883708
RCV002255371
RCV002520183
RCV003922521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Val320Ala
CA2490635
NM_000248.4:c.959T>C