ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507912
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357421
ClinVar RCV Id:
RCV000291074
RCV000595683
RCV002480236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Val2963Ile
CA3851500
NM_138694.3:c.8887G>A