ClinGen Allele Registry
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Canonical Allele Identifier:
PA916059866
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522472
ClinVar RCV Id:
RCV000625613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Asp2762Val
CA364423006
NM_170724.3:c.8285A>T