ClinGen Allele Registry
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Canonical Allele Identifier:
PA916038041
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_001341533.1:p.Val427Ala
CA2490635
NM_001354604.2:c.1280T>C