ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098381
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197958
ClinVar RCV Id:
RCV000336528
RCV000790749
RCV003474935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Met2804Lys
CA246375
NM_138694.3:c.8411T>A