ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337959
Gene: MPZ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212075
ClinVar RCV:
RCV000198501
RCV000789460
ClinVar Variation:
215993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000521.2:p.Ser140Cys
CA337957
NM_000530.7:c.419C>G