ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829686863
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54704
ClinVar RCV Id:
RCV000112214
RCV000562295
RCV000586554
RCV002514240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp49Asn
CA001871
NM_007297.4:c.145G>A