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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:
PA2829694740
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41824
ClinVar RCV Id:
RCV000034750
RCV000215471
RCV001852698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1425Phe
CA002840
NM_007297.4:c.4273C>T