ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507841
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262404
ClinVar RCV Id:
RCV000253664
RCV000558453
RCV000987715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Leu1709Phe
CA3852608
NM_138694.3:c.5125C>T