ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916060047
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357417
ClinVar RCV Id:
RCV000281542
RCV000592543
RCV003902391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Val3165Met
CA3851383
NM_170724.3:c.9493G>A