ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168327
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142428
ClinVar RCV Id:
RCV000131543
RCV000236315
RCV000416536
RCV002265618
RCV002250569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1199Val
CA002294
NM_007294.4:c.3596C>T