ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139695072
Gene: PTH1R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171673.1:p.Ala46Asp
CA2359088
NM_001184744.1:c.137C>A