Canonical Allele Identifier: PA2830258167
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg2840Gly
CA3851607
NM_138694.3:c.8518C>G