Canonical Allele Identifier: PA2826252784
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 2533994
ClinVar RCV Id: RCV004308534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186983.1:p.Thr420Pro
CA385216775
NM_001200054.1:c.1258A>C