ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580510024
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1800553
ClinVar RCV Id:
RCV002461692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Asp1641Asn
CA364430617
NM_170724.3:c.4921G>A