ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688930
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431211
ClinVar RCV Id:
RCV000496213
RCV000776208
RCV001353394
RCV001851365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys416Glu
CA10599270
NM_007297.4:c.1246A>G