ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097896
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434018
ClinVar RCV Id:
RCV000500109
RCV001291854
RCV002506218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Asp1942Gly
CA364421541
NM_138694.3:c.5825A>G