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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:
PA2825911821
Gene: PROM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194072
ClinVar RCV Id:
RCV000724359
RCV001147666
RCV001535742
RCV001147667
RCV001151003
RCV001147668
RCV004539610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139319.1:p.Val440Met
CA239871
NM_001145847.2:c.1318G>A