ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174859
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161826
ClinVar RCV Id:
RCV000149362
RCV000707171
RCV003242990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ala182Thr
CA174858
NM_138694.3:c.544G>A