ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA234579
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167492
ClinVar RCV Id:
RCV000153721
RCV000765890
RCV001331698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Asn727Ser
CA234578
NM_138694.3:c.2180A>G