ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102017
Gene: MPZ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000521.2:p.Ser63Phe
NM_000530.7:c.188C>T