ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247785
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1017935
ClinVar RCV Id:
RCV001317161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Lys138Gln
CA343348565
NM_001315491.2:c.412A>C