ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058914
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189098
ClinVar RCV Id:
RCV000169507
RCV001844813
RCV003398869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Met627Lys
CA274375
NM_170724.3:c.1880T>A