ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827328759
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008947
RCV000494533
RCV001380437
RCV003338380
ClinVar Variation:
8432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317072.1:p.Met69Lys
CA119618
NM_001330143.2:c.206T>A