ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406667
Gene: PTH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000306.1:p.Arg56Cys
NM_000315.4:c.166C>T