Canonical Allele Identifier: PA2830256339
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 950149
ClinVar RCV Id: RCV001221795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr1671Ser
CA364430098
NM_138694.3:c.5012C>G
CA364430109
NM_138694.3:c.5011A>T