ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347383
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208146
ClinVar RCV Id:
RCV000193325
RCV000789423
RCV000688094
RCV000992318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000521.2:p.Asp61Asn
CA347381
NM_000530.7:c.181G>A