ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323304
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637376
ClinVar RCV Id:
RCV000789517
RCV000807479
RCV002535805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly107Val
CA398739843
NM_153321.3:c.320G>T