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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507783
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371292
ClinVar RCV Id:
RCV000408967
RCV000598488
RCV003463802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Pro755Leu
CA16041067
NM_138694.3:c.2264C>T