ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507735
Gene: PKHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_619639.3:p.Gln250Ter
NM_138694.3:c.748C>T