ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573298145
Gene: PKHD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002020579
ClinVar Variation:
1511765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Gln3407Glu
CA364437241
NM_138694.3:c.10219C>G