ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826676390
Gene: PMPCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269873.1:p.Val313Met
CA5336452
NM_001282944.2:c.937G>A