ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507797
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289890
ClinVar RCV Id:
RCV000266382
RCV000304554
RCV003417914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Gly942Ala
CA3853094
NM_138694.3:c.2825G>C