Canonical Allele Identifier: PA2580500791
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1928108
ClinVar RCV Id: RCV002614364

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr3628Ser
CA3850997
NM_138694.3:c.10883C>G
CA364431456
NM_138694.3:c.10882A>T