ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059710
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197555
ClinVar RCV Id:
RCV000178612
RCV000291419
RCV003937615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Thr2436Ile
CA245788
NM_170724.3:c.7307C>T