ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452829
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252886
ClinVar RCV Id:
RCV000238611
RCV000615770
RCV002518535
RCV004020983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1797Leu
CA10586114
NM_007294.4:c.5390C>T