Canonical Allele Identifier: PA2830258872
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala3385Thr
CA3851240
NM_138694.3:c.10153G>A