ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110398
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000790174
RCV000802360
RCV001580546
ClinVar Variation:
637843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Ser72Trp
CA398268231
NM_000304.4:c.215C>G