ClinGen Allele Registry
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Canonical Allele Identifier:
PA916061551
Gene: PTHLH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_945317.1:p.Leu44Pro
CA123416
NM_198966.2:c.131T>C