ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829803745
Gene: PMPCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055975.1:p.Val444Met
CA5336452
NM_015160.3:c.1330G>A