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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:
PA916068791
Gene: PCDHAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279578
ClinVar RCV Id:
RCV000508600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061722.1:p.Arg864His
CA3454461
NM_018899.6:c.2591G>A