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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:
PA247027
Gene: FANCC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134305
ClinVar RCV Id:
RCV000120978
RCV000124962
RCV000179716
RCV000667368
RCV000988215
RCV001356570
RCV001083500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000127.2:p.Asp195Val
CA247025
NM_000136.3:c.584A>T