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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:
PA2828620767
Gene: PROC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499054
ClinVar RCV Id:
RCV000595447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362532.1:p.Gly447Arg
CA1859536
NM_001375603.1:c.1339G>C
CA1859537
NM_001375603.1:c.1339G>A