ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021361
Gene: MPZ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
29216
ClinVar RCV:
RCV000015240
RCV001173697
RCV001224917
ClinVar Variation:
14177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Ser63Phe
CA257156
NM_001315491.2:c.188C>T