ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826901613
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11081
ClinVar RCV Id:
RCV000011830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.Asp148His
CA255693
NM_001305004.1:c.442G>C