ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807772
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501696
ClinVar RCV Id:
RCV000592486
RCV001400967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ala1484Thr
CA3852720
NM_138694.3:c.4450G>A