ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499266597
Gene: PMPCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004270.2:p.Leu157Arg
CA4417973
NM_004279.3:c.470T>G