ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830258587
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1067981
ClinVar RCV Id:
RCV001379393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.His3124Arg
CA3851397
NM_138694.3:c.9371A>G