ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580224075
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722868
ClinVar RCV Id:
RCV002305975
RCV003098033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Pro498Leu
CA353559958
NM_001354604.2:c.1493C>T