Canonical Allele Identifier: PA2580500791
Gene: PKHD1 HGNC NCBI
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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