ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059920
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215542
ClinVar RCV Id:
RCV000197457
RCV000254142
RCV000590788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Ser2861Gly
CA337220
NM_170724.3:c.8581A>G