ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098594
Gene: PKHD1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_619639.3:p.Thr36Met
NM_138694.3:c.107C>T