Canonical Allele Identifier: PA1139759834
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asp2490Gly
CA3851929
NM_170724.3:c.7469A>G