ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693069
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_009228.2:p.Ala1152Val
CA002294
NM_007297.4:c.3455C>T