ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993481
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142301
ClinVar RCV Id:
RCV000131339
RCV000230767
RCV000588895
RCV000855579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Pro475Ala
CA002998
NM_007299.4:c.1423C>G