ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705438
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142655
ClinVar RCV Id:
RCV000132000
RCV000227715
RCV003998125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser127Ile
CA002456
NM_007298.3:c.380G>T