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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:
PA2829693994
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41821
ClinVar RCV Id:
RCV000034747
RCV000112230
RCV000048417
RCV000120280
RCV000162493
RCV000462353
RCV001170593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg1300Gly
CA002578
NM_007297.4:c.3898A>G