Canonical Allele Identifier: PA645507913
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000408884
ClinVar Variation:
369960
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly2984Ala
CA10654916
NM_138694.3:c.8951G>C