ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021329
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14185
ClinVar RCV Id:
RCV000015249
RCV000190345
RCV000638152
RCV001093014
RCV000790099
RCV002381251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Ser44Phe
CA257162
NM_001315491.2:c.131C>T