ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098477
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377354
ClinVar RCV Id:
RCV000432815
RCV001004207
RCV003152602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Pro805Leu
CA3853210
NM_138694.3:c.2414C>T