ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123424
Gene: PTH1R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000307.1:p.Arg383Gln
CA123423
NM_000316.3:c.1148G>A