ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825111199
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415243
ClinVar Variation:
374044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Val3062Asp
CA16043504
NM_000296.4:c.9185T>A