ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098095
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377269
ClinVar RCV Id:
RCV000440845
RCV001004198
RCV001775118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Gly1971Asp
CA3852378
NM_138694.3:c.5912G>A