ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741823125
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2630673
ClinVar RCV Id:
RCV003402469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Ala4077Val
CA7828714
NM_001009944.3:c.12230C>T