ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059592
Gene: PKHD1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_733842.2:p.Lys2176Ter
NM_170724.3:c.6526A>T