Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827882786

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 14277

ClinVar RCV Id: RCV000015347 RCV001541066 RCV002513060 RCV003974827 RCV002281708

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341537.1:p.Ser347Pro	CA123838 NM_001354608.2:c.1039T>C