ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580564251
Gene: PTHLH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_945317.1:p.His45Tyr
CA384339578
NM_198966.2:c.133C>T