Canonical Allele Identifier: PA658815461
Gene: PMPCB HGNC NCBI

Linked Data

ClinVar Variation Id: 523140
ClinVar RCV Id: RCV000626413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004270.2:p.Arg175His
CA4417987
NM_004279.3:c.524G>A