ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059005
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371292
ClinVar RCV Id:
RCV000408967
RCV000598488
RCV003463802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Pro755Leu
CA16041067
NM_170724.3:c.2264C>T