ClinGen Allele Registry
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Canonical Allele Identifier:
PA180302
Gene: PKHD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177368
ClinVar RCV:
RCV000153707
RCV000169053
RCV001292335
RCV001449939
RCV001706025
ClinVar Variation:
167479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Asp3139Tyr
CA180301
NM_138694.3:c.9415G>T