ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829700837
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375447
ClinVar RCV Id:
RCV000416506
RCV000586506
RCV000509960
RCV001077875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Glu557Lys
CA10591564
NM_007298.3:c.1669G>A