ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055060
Gene: PMP22
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_696997.1:p.Ser72Leu
NM_153322.3:c.215C>T