ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698256
Gene: MPZ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001174325
ClinVar Variation:
917381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Asn116Tyr
CA343349233
NM_001315491.2:c.346A>T