ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021341
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531693
ClinVar RCV Id:
RCV000638176
RCV000789497
RCV001815361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Ser51Phe
CA343351152
NM_001315491.2:c.152C>T