ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433532
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451477
ClinVar RCV Id:
RCV001148363
RCV001148364
RCV000523994
RCV003114651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Asn216Ser
CA2490582
NM_198178.3:c.647A>G