ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658815464
Gene: PMPCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004270.2:p.Ile422Thr
CA368738284
NM_004279.3:c.1265T>C