ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021509
Gene: MPZ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001308866
ClinVar Variation:
242746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Ile162Met
CA351454
NM_001315491.2:c.486C>G
CA351458
NM_001315491.2:c.[486C>G;274G>A;266T>A]