ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098213
Gene: PKHD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000474720
RCV002481410
ClinVar Variation:
406889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ile2303Phe
CA3852124
NM_138694.3:c.6907A>T