Canonical Allele Identifier: PA2499235093
Gene: PKD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001009944.3:p.Thr3975Ile
CA7828940
NM_001009944.3:c.11924C>T